LHFPL2

Lipoma HMGIC fusion partner-like 2 protein is a protein that in humans is encoded by the LHFPL2 gene.^[5][6]

LHFPL2
Identifiers
Aliases	LHFPL2, lipoma HMGIC fusion partner-like 2, LHFPL tetraspan subfamily member 2
External IDs	OMIM: 609718; MGI: 2145236; HomoloGene: 4222; GeneCards: LHFPL2; OMA:LHFPL2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q14.1 Start 78,485,215 bp[1] End 78,770,021 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 C3 Start 94,194,304 bp[2] End 94,331,917 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vena cava Achilles tendon synovial membrane synovial joint cartilage tissue olfactory bulb saphenous vein tendon of biceps brachii pericardium duodenum Top expressed in medullary collecting duct epithelium of lens otolith organ utricle retinal pigment epithelium cumulus cell efferent ductule ciliary body iris decidua More reference expression data BioGPS More reference expression data
Gene ontology Molecular function molecular function Cellular component membrane integral component of membrane plasma membrane platelet alpha granule membrane cellular component Biological process platelet degranulation development of primary female sexual characteristics development of primary male sexual characteristics positive regulation of fertilization single fertilization biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10184 218454 Ensembl ENSG00000145685 ENSMUSG00000045312 UniProt Q6ZUX7 Q8BGA2 RefSeq (mRNA) NM_005779 NM_172589 RefSeq (protein) NP_005770 NP_766177 Location (UCSC) Chr 5: 78.49 – 78.77 Mb Chr 13: 94.19 – 94.33 Mb PubMed search [3] [4]
Wikidata
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This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.^[6]